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Completed Projects


Resequencing - Service Phase II

Project Title Principal Investigator Size
Sample ## and Assay Type ±
Sep 2015 Exome Sequencing in Left Ventricular Hypertrophy Families and Functional Annotation Using induced Pluripotent Stem Cell Derived Cardiomyocytes: The HyperGen cIPS Study Ulrich Broeckel 258,Exome
Sep 2015 Resequencing under Linkage Peaks for Clusters of CVD Risk Factors Karen Edwards 93, Custom
Aug 2015 Resequencing of GWAS-informed Loci for Primary Intracerebral Hemorrhage Jonathan Rosand 2460,Custom
Aug 2015 De Novo Mutations in Congenital Diaphragmatic Hernia, a Common and Highly Morbid Pediatric Condition Associated with Lung Hypoplasia Mauro Longoni 106, Exome
Jul 2015 Whole exome sequencing to find modifiers of cardiovascular anomalies in 22q11.2 deletion syndrome Bernice Morrow 209, Custom
Jul 2015 Genetics of Fibromuscular Dysplasia Santhi Ganesh 981, Exome
Jun 2015 Identifying Rare Variants as Genetic Risk Factors for Bicuspid Aortic Valve Michael Silberbach 273, Exome
Apr 2015 Targeted DNA sequencing of blood group genes in Asian American blood donors. Jill Johnsen 1170, Custom
Apr 2015 Identifying genetic causes of arrhythmogenic right ventricular cardiomyopathy (ARVC) in Bonobos through whole genome sequencing Melinda Dwinell 3, Genome
Apr 2015 Identifying Novel Thrombosis Modifier Genes David Ginsburg 144, Exome
Mar 2015 Resequencing analysis of 11q23.3 to identify loci contributing to hypertriglyceridemia Dharambir Sanghera 1642, Custom
Aug 2014 Genetic Variants and Bronchopulmonary Dysplasia in Premature Infants Aaron Hamvas 358, Exome
Jul 2014 Gene Networks of de novo mutations in trios with sporadic bicuspid aortic valves Kasper Lage 144, Exome
Jun 2014 Candidate Genes for Conotruncal Cardiac Defects Derived from Genomic Studies and Animal Models Elizabeth Goldmuntz 384, Custom
Apr 2014 Resequencing the SMAD2 Locus to Identify Risk Alleles for Asthma in Latinos Esteban Burchard 2000, Custom
Apr 2014 Genetic Determinants of Idiopathic Pulmonary Fibrosis David Schwartz 480, Custom
Feb 2014 Targeted resequencing of Candidate Genes for Peripheral Arterial Disease Iftikhar Kullo 3999, Custom
Dec 2013 Exome Sequencing in Early Onset Atrial Fibrillation Steven Lubitz 288, Exome
Dec 2013 Genetic susceptibility to statin-induced myopathy Paul Isackson 48, Exome
May 2013 Identifying Rare Variants as Genetic Risk Factors for Atrioventricular Septal Defects Cheryl Maslen 347, Exome
May 2013 A Resequencing Study to Identify Mutations and Variations in the Bone Morphogenetic Protein Receptor Type 2 (BMPR2) Gene in Scleroderma and Scleroderma Associated Pulmonary Arterial Hypertension Li Gao 703, Custom
May 2013 Resequencing of Five GWAS Loci for Atrial Fibrillation Patrick Ellinor 1440, Custom
Mar 2013 Sequencing of the MET gene found to be associated with collagen-mediated native platelet aggregation in whole blood Rasika Mathias 192, Custom
Jan 2013 Targeted Next-generation of Congenital Diaphragmatic Hernia patients: Development of a Diagnostic Capture Array. Patricia Donahoe 180, Exome
Nov 2012 Resequencing of candidate modifier genes for conotruncal heart defects in VCFS/DGS/22q11DS patients Bernice Morrow 208, Exome
Sep 2012 Re-sequencing of the TNNI3K and Myotilin genes in Idiopathic Dilated Cardiomyopathy Douglas Marchuk 188, Sanger
Jun 2012 Resequencing Genes Critical to Warfarin Therapy Russ Altman 113, Exome
Apr 2012 Resequencing the RH locus in African Americans and patients with Sickle Cell Disease - Pilot Marion Reid 24, Sanger
Feb 2012 Resequencing for cystic fibrosis gene modifiers: A region on chromosome 11 with highly significant genome-wide association to pulmonary disease severity Michael Knowles 384, Custom

± The total number of samples analyzed and the assay type (Exome, Custom, or Sanger) are indicated.

Resequencing - Service Phase I

Project Title Principal Investigator Size
Jan 2012 Resequencing the Chromosome 4q25 locus for Atrial Fibrillation Patrick Ellinor 65.3
Sep 2010 Deep resequencing for comprehensive SNP discovery in TNFRSF10B, a candidate gene associated with plasma fatty acid concentrations in Alaska Natives Shelley Cole 10.0
Aug 2010 Resequencing of Fatty Acid Binding Protein Genes in Population of African Ancestry Iva Miljkovic 4.3
Jun 2010 The Potential for Reverse Genetics in Humans. Linking Genes to Phenotypes through Population-Based Resequencing Jonathan Cohen 64.8
Mar 2010 Identification of Genes Causing Mitral Valve Prolapse Susan Slaugenhaupt 37.5
Feb 2010 Sequencing of Candidate Genes for Cardiac Atrioventricular Septal Defects in a Down Syndrome Cohort Cheryl Maslen 46.1
Jan 2010 A Re-Sequencing Study to Identify Rare Variants in Asthma-Susceptibility Genes: A Case-Control Study in Two Racial Groups Carole Ober 89.0
May 2009 Sequencing of Known Genes for Thoracic Aortic Aneurysms and Dissection in the GenTAC Cohort Dianna Milewicz 16.9
May 2009 Understanding the Relationship of Transcription Factor 7-like Gene (TCF7L2) Polymorphisms and Incidence of Diabetes in an Ethnically Diverse Hypertensive Heart Disease Population Rhonda Cooper-DeHoff 39.4
Apr 2009 Resequencing genes that cause dilated cardiomyopathy in a large cohort of index patients with familial dilated cardiomyopathy -- II. Ray Hershberger 20.9
Apr 2009 Diamond Blackfan Anemia Resequencing and Gene Discovery Project Adrianna Vlachos 47.0
Jan 2009 Genetic sequence variation discovery at three loci (β-globin locus, BCL11A, HBS1L-MYB) associated with fetal hemoglobin levels in sickle cell disease patients Joel Hirschhorn 36.5
Nov 2008 Novel loci for HDL-cholesterol and triglyceride levels identified by genome-wide association study Karen Mohlke 39.2
Sep 2008 Resequencing analyses of loci influencing LDL cholesterol and identified through genome-wide association studies Goncalo Abecasis 34.9
Aug 2008 Genome variation on chromosome 9 in Framingham Heart Study Christopher O'Donnell 68.6
Aug 2008 Resequencing of genetic modifiers for 22q11.2 deletion syndrome. Bernice Morrow 4.8
Apr 2008 The Genetic Basis of Atrial Fibrillation Dawood Darbar 8.2
Apr 2008 Axonemal dynein heavy chain 11 (DNAH11) codes for outer dynein arm (ODA) of respiratory cilia: Testing for disease-causing mutations in primary ciliary dyskinesia (PCD). Maimoona Banoo Zariwala 7.5
Apr 2008 Giant Gene Titin (TTN) Involvement in Dilated Cardiomyopathy Luisa Mestroni 33.6
Dec 2007 A Novel Locus for Familial Thoracic Aortic Aneurysms and Dissection Mapped to 4Mb on 15q24-26 (TAAD3) Dianna Milewicz 2.4
Oct 2007 Genetic Association Studies of Endothelial Lipase and Zinc Finger Protein 202 in Atherosclerosis. Hamid Razzaghi 13.9
Oct 2007 Large scale sequencing of individuals with essential hypertension (LASSO hypertension study): Analysis of monogenic hypertension syndrome genes at the extremes to find genetic determinants of common essential hypertensive disease Aravinda Chakravarti 106.5
Sep 2007 Identifying genetic sequence variation contributing to extremes of blood pressure in 23 genes in adrenergic, renin-angiotensin, nitric oxide and natriuretic peptide pathways Christopher NewtonCheh 87.9
Aug 2007 A resequencing study of genes of the vascular endothelial growth factor (VEGF) pathway Federico Innocenti 26.9
Aug 2007 Molecular Basis of Diamond-Blackfan Anemia Niklas Dahl 0.9
Nov 2006 Resequencing genes that cause dilated cardiomyopathy in a large cohort of index patients with familial dilated cardiomyopathy. Ray Hershberger 31.0
Nov 2006 Venous Thrombosis: Genes, Risk and Management Edwin Bovill 39.3
May 2006 Pharmacogenomics of Arrhythmia Therapy Dan Roden 52.7
May 2006 SNP Diversity in Iron Metabolism Pathways Christine McLaren 43.0
Apr 2006 Pharmacogenomics of Arrhythmia Therapy Dan Roden 52.7
Nov 2005 Oxidation and inflammation in carotid artery disease risk and progression. Gail Jarvik 28.2

* Megabases (Mb) per project are calculated from the number of samples sequenced x the number of basepairs sequenced per sample.


Genotyping - Service Phase II

Project Title Principal Investigator Size
Sample ## and Assay Type ±
Jan 2014 Exome Functional Assessment of ARDS David Christiani 1710, Exome
Nov 2013 A family-based Exome Chip interrogation for platelet aggregation genes. Rasika Mathias 1181, Exome
Jun 2013 Genomic modifiers of platelet production Wadie Bahou 480, Custom
Jun 2013 HUNTing for genes that cause extreme HDL cholesterol levels Cristen Willer 3996 Exome
May 2013 Confirming Pharmacogenomics Signals for Antihypertensive Response in INVEST-GENES Yan Gong 3360 Custom
Feb 2013 Genotyping follow-up of exome data in familial combined hyperlipidemia pedigrees Gail Jarvik 864, Exome
Oct 2012 Understanding the role of exonic variation in asthma and related phenotypes (Stephanie London, NIEHS) Carole Ober 1442, Exome
Oct 2012 Understanding the role of exonic variation in asthma and related phenotypes (Esteban Burchard, University of California San Francisco) Carole Ober 2755, Exome
Oct 2012 Understanding the role of exonic variation in asthma and related phenotypes (Keoki Williams, Henry Ford Health System) Carole Ober 1140, Exome
Oct 2012 Understanding the role of exonic variation in asthma and related phenotypes (Fernando Martinez, University of Arizona) Carole Ober 81, Exome
Oct 2012 Understanding the role of exonic variation in asthma and related phenotypes (Scott Weiss, Brigham and Women's Hospital) Carole Ober 1278, Exome
Oct 2012 Understanding the role of exonic variation in asthma and related phenotypes Carole Ober 1339, Exome
Sep 2012 Understanding the role of exonic variation in asthma and related phenotypes (Kathleen Barnes, Johns Hopkins University) Carole Ober 2181, Exome

+ Number of samples genotyped and assay type (e.g. Exome, Custom) are indicated.


Genotyping - Service Phase I

Project Title Principal Investigator Size
(sample ## x SNPs)*
Feb 2011 Gene-Environment Interactions and the Origins of Asthma: Role of Rhinovirus (RV) Infection in Infancy Carole Ober 540 x 1536
Mar 2010 Validation of modifiers of Hemochromatosis candidate SNPs in two genes Lyle Gurrin 270 x 96
Oct 2009 Genetic Variation in Toll-like Receptors and Immune Response to CMV glycoprotein B vaccine (resubmission) Ravit Boger 387 x 768
Dec 2008 Validation of the IGSF4 Gene as a Risk Factor for Venous Thrombosis in an Independent Population Frits Rosendaal 9180 X 384
Nov 2008 Association Studies of Positional Candidate Genes in Early-Onset Coronary Artery Disease Svati Shah 2880 X 1536
Oct 2008 Genetic Variation in Selenoproteins and Risk of Rapid Decline in Lung Function Patricia Cassano 3003 x 384
Sep 2008 SNP Analysis of AAA1 and AAA2 Loci S. Helena Kuivaniemi 990 x 768
Aug 2008 Genetic Variation in the Folate Metabolic Network and Cardiovascular Disease Patricia Cassano 1427 x 384
Jul 2008 Pharmacogenetics and cardiovascular events: a replication study in the Cardiovascular Health STudy (CHS) with opportunities to evaluate associations with new phenotypes Bruce Psaty 3385 x 1536
Apr 2008 Defining the role of candidate gene variation in the quantitative phenotypes related to heart disease Dana Crawford 7488 x 384
Nov 2007 Genetic Factors in Invasive Pneumococcal Disease Jairam Lingappa 1056 x 384
Jun 2007 Genome-wide association analysis of cardiovascular risk factors in African Americans using mapping by admixture linkage disequilibrium (MALD) Wen Hong Linda Kao 1440 x 1536
May 2007 Multi-Marker Haplotype Analysis of Less Conventional Lipid-Relevant Genes in Multigenerational Families of African Origin Iva Miljkovic-Gacic 431x 384
Apr 2007 Molecular Epidemiology of MI and Stroke in Older Adults Alex Reiner 5377 x 768
Apr 2007 Genetic modifiers of cystic fibrosis: Sibling Study Garry Cutting 1440 x 1536
Dec 2006 Positional Cloning of Genes for Hypertension and Related Traits in the Amish. Nanette Steinle 900 X 3072
Dec 2006 NFKB pathway variation in carotid artery disease risk and progression and in inflammatory marker prediction Gail Jarvik 1440 X 768
Dec 2006 Positional Candidate Gene Studies of Heart and Lung Phenotypes in the Hutterites Carole Ober 1000 X 1536
Apr 2006 A Dense SNP Map of 17q24-25 for Visceral Adiposity: the IRAS Family Study Stephen Rich 1,404 x 1,516

* Number of samples genotyped X the number of SNPs.



Chung JH, Cai J, Suskin, BG, Zhang Z, Coleman K, Morrow B. Whole Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations. Hum Mutat. doi: 10.1002/humu.22814.
Wessel J, Chu AY, Willems SM, Wang S, Yaghootkar H, Brody JA, Dauriz M, Hivert MF, Raghavan S, Lipovich L, Hidalgo B, Fox K, Huffman JE, An P, Lu Y, Rasmussen-Torvik LJ, Grarup N, Ehm MG, Li L, Baldridge AS, Stančâkovâ A, Abrol R, Besse C, Boland A, Bork-Jensen J, Fornage M, Freitag DF, Garcia ME, Guo X, Hara K, Isaacs A, Jakobsdottir J, Lange LA, Layton JC, Li M, Hua Zhao J, Meidtner K, Morrison AC, Nalls MA, Peters MJ, Sabater-Lleal M, Schurmann C, Silveira A, Smith AV, Southam L, Stoiber MH, Strawbridge RJ, Taylor KD, Varga TV, Allin KH, Amin N, Aponte JL, Aung T, Barbieri C, Bihlmeyer NA, Boehnke M, Bombieri C, Bowden DW, Burns SM, Chen Y, Chen YD, Cheng CY, Correa A, Czajkowski J, Dehghan A, Ehret GB, Eiriksdottir G, Escher SA, Farmaki AE, Frånberg M, Gambaro G, Giulianini F, Goddard WA, Goel A, Gottesman O, Grove ML, Gustafsson S, Hai Y, Hallmans G, Heo J, Hoffmann P, Ikram MK, Jensen RA, Jørgensen ME, Jørgensen T, Karaleftheri M, Khor CC, Kirkpatrick A, Kraja AT, Kuusisto J, Lange EM, Lee IT, Lee WJ, Leong A, Liao J, Liu C, Liu Y, Lindgren CM, Linneberg A, Malerba G, Mamakou V, Marouli E, Maruthur NM, Matchan A, McKean-Cowdin R, McLeod O, Metcalf GA, Mohlke KL, Muzny DM, Ntalla I, Palmer ND, Pasko D, Peter A, Rayner NW, Renström F, Rice K, Sala CF, Sennblad B, Serafetinidis I, Smith JA, Soranzo N, Speliotes EK, Stahl EA, Stirrups K, Tentolouris N, Thanopoulou A, Torres M, Traglia M, Tsafantakis E, Javad S, Yanek LR, Zengini E, Becker DM, Bis JC, Brown JB, Adrienne Cupples L, Hansen T, Ingelsson E, Karter AJ, Lorenzo C, Mathias RA, Norris JM, Peloso GM, Sheu WH, Toniolo D, Vaidya D, Varma R, Wagenknecht LE, Boeing H, Bottinger EP, Dedoussis G, Deloukas P, Ferrannini E, Franco OH, Franks PW, Gibbs RA, Gudnason V, Hamsten A, Harris TB, Hattersley AT, Hayward C, Hofman A, Jansson JH, Langenberg C, Launer LJ, Levy D, Oostra BA, O'Donnell CJ, O'Rahilly S, Padmanabhan S, Pankow JS, Polasek O, Province MA, Rich SS, Ridker PM, Rudan I, Schulze MB, Smith BH, Uitterlinden AG, Walker M, Watkins H, Wong TY, Zeggini E; EPIC-InterAct Consortium, Laakso M, Borecki IB, Chasman DI, Pedersen O, Psaty BM, Shyong Tai E, van Duijn CM, Wareham NJ, Waterworth DM, Boerwinkle E, Linda Kao WH, Florez JC, Loos RJ, Wilson JG, Frayling TM, Siscovick DS, Dupuis J, Rotter JI, Meigs JB, Scott RA, Goodarzi MO; EPIC-InterAct Consortium. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun. 2015 Jan 29;6:5897. doi: 10.1038/ncomms6897.
Igartua C, Myers RA, Mathias RA, Pino-Yanes M, Eng C, Graves PE, Ober C. Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma. Nat Commun. 2015 Jan 16;6:5965. doi: 10.1038/ncomms6965.
Longoni M, High FA, Russell MK, Kashani A, Tracy AA, Coletti CM, Hila R, Shamia A, Wells J, Ackerman KG, Wilson JM, Bult CJ, Lee C, Lage K, Pober BR, Donahoe PK. Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics. Proc Natl Acad Sci U S A. 2014 Aug 26;111(34):12450-5. doi: 10.1073/pnas.1412509111. Epub 2014 Aug 8. PMID: 25107291
Holmen OL, Zhang H, Zhou W, Schmidt E, Hovelson DH, Langhammer A, Løchen ML, Ganesh SK, Mathiesen EB, Vatten L, Platou C, Wilsgaard T, Chen J, Skorpen F, Dalen H, Boehnke M, Abecasis GR, Njølstad I, Hveem K, Willer CJ. No large-effect low-frequency coding variation found for myocardial infarction. Hum Mol Genet. 2014 Sep 1;23(17):4721-8. doi: 10.1093/hmg/ddu175. Epub 2014 Apr 12. PMID: 24728188
Longoni M, Russell MK, High FA, Darvishi K, Maalouf FI, Kashani A, Tracy AA, Coletti CM, Loscertales M, Lage K, Ackerman KG, Woods SA, Ward-Melver C, Andrews D, Lee C, Pober BR, Donahoe PK. Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. Clin Genet. 2014 Apr 4. doi: 10.1111/cge.12395. [Epub ahead of print].
Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, Yin W, Sannuti A, Metjian HM, Noone PG, Noone PJ, Olson CA, Patrone MV, Dang H, Lee HS, Hurd TW, Gee HY, Otto EA, Halbritter J, Kohl S, Kircher M, Krischer J, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Zariwala MA. Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype. Am J Respir Crit Care Med. 2014 Mar 15;189(6):707-17. doi: 10.1164/rccm.201311-2047OC. PMID: 24568568
Rosenthal EA, Ranchalis J, Crosslin DR, Burt A, Brunzell JD, Motulsky AG, Nickerson DA; NHLBI GO Exome Sequencing Project, Wijsman EM, Jarvik GP. Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. Am J Hum Genet. 2013 Dec 5;93(6):1035-45. doi: 10.1016/j.ajhg.2013.10.019. Epub 2013 Nov 21.
Paré-Brunet L, Glubb D, Evans P, Berenguer-Llergo A, Etheridge AS, Skol AD, Di Rienzo A, Duan S, Gamazon ER, Innocenti F. Discovery and functional assessment of gene variants in the vascular endothelial growth factor pathway. Hum Mutat. 2014 Feb;35(2):227-35. doi: 10.1002/humu.22475. Epub 2013 Nov 27.
Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet. 2013 Oct 3;93(4):711-20. doi: 10.1016/j.ajhg.2013.07.025. Epub 2013 Sep 19.
Caliskan M, Bochkov YA, Kreiner-Moller E, Bonnelykke K, Stein MM, Du G, Bisgaard H, Jackson DJ, Gern JE, Lemanske RF Jr, Nicolae DL, Ober C. Rhinovirus wheezing illness and genetic risk of childhood-onset asthma. N Engl J Med. 2013 Apr 11;368(15):1398-407. doi: 10.1056/NEJMoa1211592. Epub 2013 Mar 27.
Brodt C, Siegfried JD, Hofmeyer M, Martel J, Rampersaud E, Li D, Morales A, Hershberger RE. Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy. J Card Fail. 2013 Apr;19(4):233-9. doi: 10.1016/j.cardfail.2013.03.001.
Siegfried JD, Morales A, Kushner JD, Burkett E, Cowan J, Mauro AC, Huggins GS, Li D, Norton N, Hershberger RE. Return of genetic results in the familial dilated cardiomyopathy research project. J Genet Couns. 2013 Apr;22(2):164-74. doi: 10.1007/s10897-012-9532-8. Epub 2012 Aug 11.
Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet. 2013 Jan 10;92(1):99-106. doi: 10.1016/j.ajhg.2012,11.003. Epub 2012 Dec 20. PMID: 23261302.
Johnson AD, Hwang SJ, Voorman A, Morrison A, Peloso GM, Hsu YH, Thanassoulis G, Newton-Cheh C, Rogers IS, Hoffmann U, Freedman JE, Fox CS, Psaty BM, Boerwinkle E, Cupples LA, ODonnell CJ. Resequencing and clinical associations of the 9p21.3 region: a comprehensive investigation in the Frammingham Heart Study. Circulation. 2013 Feb 19; 127(7):799-810. doi: 10.1161/CIRCULATIONAHA.112.111559. Epub 2013 Jan 11. PMID: 23315372.
Nguyen KD, Pihur V, Ganesh SK, Rakha A, Cooper RS, Hunt SC, Freedman BI, Coresh J, Kao WH, Morrison AC, Boerwinkle E, Ehret GB, Chakravarti A. Effect of rare and common blood pressure gene variants on essential hypertension: results from the Family Blood Pressure Program, CLUE, and Atherosclerosis Risk in Communities studies. Circ Res. 2013 Jan 18;112(2):318-26. doi: 10.1161/CIRCRESAHA.112.276725. Epub 2012 Nov 12. PMID: 23149595.
Knowles M, Leigh M, Carson J, Davis S, Dell S, Ferkol T, Olivier K, Sagel S, Rosenfeld M, Burns K, Minnix S, Michael A, Lori A, Hazucha M, Loges N, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA. Mutations of DNAH11 in primary ciliary dyskinesia patients with normal ciliary ultrastructure. Thorax. 2012 May;67(5):433-41. doi: 10.1136/thoraxjnl-2011-200301. Epub 2011 Dec 18. PMID: 22184204.
Ackerman C, Locke AE, Feingold E, Reshey B, Espana K, Thusberg J, Mooney S, Bean LJ, Dooley KJ, Cua CL, Reeves RH, Sherman SL, Maslen CL. An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. Am J Hum Genet. 2012 Oct 5;91(4):646-59. doi: 10.10116/j.ajhg.2012.08.017. PMID: 23040494.
Bentley AR, Kritchevsky S, Harris T, Newman A, Bauer D, Meibohm B, Clark A, Cassano PA; Health, Aging, and Body Composition Study. Genetic variation in antioxidant enzymes and lung function. Free Radic Biol Med 2012 May 1;52(9):1577-83. doi: 10.1016/j.freeradbiomed.2012.02.025. Epub 2012 Mar 1. PMID: 22005919.
Wernimont SM, Clark AG, Stover PJ, Wells MT, Litonjua AA, Weiss ST, Gaziano JM, Vokonas PS, Tucker KL, Cassano PA. Folate network genetic variation predicts cardiovascular disease risk in non-Hispanic white males. J Nutr. 2012 Jul;142(7):1272-79. doi: 10.3945/jn.111.157180. Epub 2012 May 30. PMID: 22649255.
Voight BF, Kang HM, Ding J, Palmer CD, Sidore C, Chines PS, Burtt NP, Fuchsberger C, Li Y, Erdmann J, Frayling TM, Heid IM, Jackson AU, Johnson T,Kilpeläinen TO, Lindgren CM, Morris AP, Prokopenko I, Randall JC, Saxena R,Soranzo N, Speliotes EK, Teslovich TM, Wheeler E, Maguire J, Parkin M, Potter S, Rayner NW, Robertson N, Stirrups K, Winckler W, Sanna S, Mulas A, Nagaraja R,Cucca F, Barroso I, Deloukas P, Loos RJ, Kathiresan S, Munroe PB, Newton-Cheh C, Pfeufer A, Samani NJ, Schunkert H, Hirschhorn JN, Altshuler D, McCarthy MI, Abecasis GR, Boehnke M. The metabochip, a custom genotyping array for geneticstudies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet. 2012;8(8):e1002793. doi: 10.1371/journal.pgen. 1002793, Epub 2012 Aug 2. PMID: 22876189.
Cheng CY, Reich D, Haiman CA, Tandon A, Patterson N, Selvin E, Akylbekova EL, Brancati FL, Coresh J, Boerwinckle E, Altshuler D, Taylor HA, Henderson BE, Wilson JG, Kao WH. African ancestry and its correlation to type 2 diabetes risk in African Americans: a genetic ddmixture analysis in three U.S. population cohorts. PLoS One. 2012;7(3):e32840. doi: 10.1371/journal.pone.0032840. Epub 2012 Mar 16. PMID: 22438884.
Torgerson DG, Capurso D, Mathias RA, Graves PE, Hernandez RD, Beaty TH, Bleecker ER, Raby BA, Meyers DA, Barnes KC, Weiss ST, Martinez FD, Nicolae DL, Ober C. Resequencing candidate genes implicates rare variants in asthma susceptibility. Am J Hum Genet. 2012 Feb 10;90(2):273-81. doi: 10.1016.j.ajhg.2012.01.008. PMID: 22325360.
Farrar JE, Vlachos A, Atsidaftos E, Carlson-Donohoe H, Markello TC, Arceci RJ, Ellis SR, Lipton JM, Bodine DM. Ribosomal protein gene deletions in Diamond-Blackfan anemia. Blood. 2011 Dec 22;118(26):6943-51. doi: 10.1182/blood-2011-08-375170. Epub 2011 Nov 1.
Wernimont SM, Clark AG, Stover PJ, Wells MT, Litonjua AA, Weiss ST, Gaziano JM, Tucker KL, Baccarelli A, Schwartz J, Bolati V, Cassano PA. Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study. BMC Med Genet. 2011; 12: 150. doi: 10.1186/1471-2350-12-150. Epub 2011 Nov 21. PMCID: PMC3266217.
Lingappa JR, Dumitrescu L, Zimmer SM, Lynfield R, McNicholl JM, Messonnier NE, Whitney CG, Crawford DC. Identifying host genetic risk factors in the context of public health surveillance for invasive pneumococcal disease. PLoS One. 2011;6(8):e23413. doi: 10.1371/journal.pone.0023413. Epub 2011 Aug 15. PMID: 21858107.
Sanna S, Li B, Mulas A, Sidore C, Kang HM, Jackson AU, Piras MG, Usala G, Maninchedda G, Sassu A, Serra F, Palmas MA, Wood WH 3rd, Njølstad I, Laakso M, Hveem K, Tuomilehto J, Lakka TA, Rauramaa R, Boehnke M, Cucca F, Uda M, Schlessinger D, Nagaraja R, Abecasis GR. Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. PLoS Genet. 2011 Jul;7(7):e1002198. doi: 10.1371/journal.pgen.1002198. Epub 2011 Jul 28. PMID: 21829380.
Maruthur NM, Kao WH, Clark JM, Brancati FL, Cheng CY, Pankow JS, Selvin E. Does genetic ancestry explain higher values of glycated hemoglobin in African Americans? Diabetes. 2011 Sep;60(9):2434-8. doi: 10.2337/db11-0319. Epub 2011 Jul 25. PMID: 21788574.
Dumitrescu L, Glenn K, Brown-Gentry K, Shephard C, Wong M, Rieder MJ, Smith JD, Nickerson DA, Crawford DC. Variation in LPA is associated with Lp(a) levels in three populations from the Third National Health and Nutrition Examination Survey. PLoS One. 2011 Jan 28;6(1):e16604. doi: 10.1371/journal.pone.0016604.
Hershberger RE, Norton N, Morales A, Li D, Siegfried JD, Gonzalez-Quintana J. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genet. 2010 Apr;3(2):155-61. doi: 10.1161/CIRCGENETICS.109.912345. Epub 2010 Mar 9.
Cheng CY, Reich D, Coresh J, Boerwinkle E, Patterson N, Li M, North KE, Tandon A, Bailey-Wilson JE, Wilson JG, Kao WH. Admixture mapping of obesity-related traits in African Americans: the AtherosclerosisRisk in Communities (ARIC) Study. Obesity. (Silver Spring). 2010 Mar;18(3):563-72. doi: 10.1038/oby.2009.282. Epub 2009 Aug 20. PMID: 19696751.
Cheng CY, Reich D, Wong TY, Klein R, Klein BE, Patterson N, Tandon A, Li M, Boerwinkle E, Sharrett AR, Kao WH. Admixture mapping scans identify a locus affecting retinal vascular caliber in hypertensive AfricanAmericans: the Atherosclerosis Risk in Communities (ARIC) study. PLoS Genet. 2010 Apr 15;6(4):e1000908. doi: 10.1371/journal.pgen.1000908. PMID: 20419148.
Lipton JM, Ellis SR. Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders. Curr Opin Pediatr. 2010 Feb;22(1):12-9. doi: 10.1097/MOP.0b013e328334573b.
Reich D, Nalls MA, Kao WH, Akylbekova EL, Tandon A, Patterson N, Mullikin J, Hsueh WC, Cheng CY, Coresh J, Boerwinkle E, Li M, Waliszewska A, Neubauer J, Li R, Leak TS, Ekunwe L, Files JC, Hardy CL, Zmuda JM, Taylor HA, Ziv E, Harris TB, Wilson JG. Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene. PLoS Genet. 2009 Jan;5(1):e1000360. doi: 10.1371/journal.pgen.1000360. Epub2009 Jan 30. PMID: 19180233.
Cheng CY, Kao WH, Patterson N, Tandon A, Haiman CA, Harris TB, Xing C, John EM, Ambrosone CB, Brancati FL, Coresh J, Press MF, Parekh RS, Klag MJ, Meoni LA, Hsueh WC, Fejerman L, Pawlikowska L, Freedman ML, Jandorf LH, Bandera EV, Ciupak GL, Nalls MA, Akylbekova EL, Orwoll ES, Leak TS, Miljkovic I, Li R, Ursin G, Bernstein L, Ardlie K, Taylor HA, Boerwinckle E, Zmuda JM, Henderson BE, Wilson JG, Reich D. Admixture mapping of 15,280 African Americans identifies obesity susceptibility loci on chromosomes 5 and X. PLoS Genet. 2009 May;5(5):e1000490. doi: 10.1371/journal.pgen.1000490. Epub 2009 May 22. PMID: 19461885.
Lipton JM, Ellis SR. Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. Hematol Oncol Clin North Am. 2009 Apr;23(2):261-82. doi: 10.1016/j.hoc.2009.01.004.
Watanabe H, Darbar D, Kaiser DW, Jiramongkolchai K, Chopra S, Donahue BS, Kannankeril PJ, Roden DM. Mutations in sodium channel beta-1 and beta-2 subunits associated with atrial fibrillation. Circ Arrhythm Electrophysiol. 2009 June;2(3):268-75. doi: 10.1161/CIRCEP.108.779181. Epub 2009 Mar 6. PMCID: PMC2727725.
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Hersh CP, Hansel NN, Barnes KC, Lomas DA, Pillai SG, Coxson HO, Mathias RA, Rafaels NM, Wise RA, Connett JE, Klanderman BJ, Jacobson FL, Gill R, Litonjua1 AA, Sparrow D, Reilly JJ, Silverman EK, the ICGN Investigators. Transforming growth factor-beta receptor-3 is associated with pulmonary emphysema. Am J Respir Cell Mol Biol. 2009 September; 41(3): 324-31. doi: 10.1165/rcmb.2008-0427OC. Epub 2009 Jan 8. PMID: 19131638.
Constantine CC, Anderson GJ, Vulpe CD, McLaren CE, Bahlo M, Yeap HL, Gertig DM, Osborne NJ, Bertalli NA, Beckman KB, Chen V, Matak P, McKie AT, Delatycki MB, Olynyk JK, English DR, Southey MC, Giles GG, Hopper JL, Allen KJ, Gurrin LC. A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis. Br J Haematol. 2009 Oct;147(1):140-9. doi: 10.1111/j.1365-2141.2009.07843.x. Epub 2009 Aug 10.
Hasstedt SJ, Bezemer ID, Callas PW, Vossen CY, Trotman W, Hebbel RP, Demers C, Rosendaal FR, Bovill EG. Cell adhesion molecule 1 (CADM1): a novel risk factor for venous thrombosis. Blood. 2009 Oct 1;114(14):3084-91. doi: 10.1182/blood-2009-05-219485. Epub 2009 Jul 30. PMID: 19643986.
Hansel NN, Gao L, Rafaels NM, Mathias RA, Neptune ER, Tankersley C, Grant AV, Connett J, Beaty TH, Wise RA, Barnes KC. Leptin receptor polymorphisms and lung function decline in COPD. Eur Respir J. 2009 Jul;34(1):103-10. doi: 10.183/09031936.00120408. Epub 2009 Feb 5. PMID: 19196818.
Ober C, Nord AS, Thompson EE, Pan L, Tan Z, Cusanovich D, Sun Y, Nicolae R, Edelstein C, Schneider DH, Billstrand C, Pfaffinger D, Phillips N, Anderson RL, Philips B, Rajagopalan R, Hatsukami TS, Rieder MJ, Heagerty PJ, Nickerson DA, Abney M, Marcovina S, Jarvik GP, Scanu AM, Nicolae DL. Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q. J Lipid Res. 2009 May;50(5): 798-806. doi: 10.1194/jlr.M800515-JLR200. Epub 2009 Jan 5. PMID: 19124843.
Talbert ME, Langefeld CD, Ziegler J, Mychaleckyj JC, Haffner SM, Norris JM, Bowden DW. Polymorphisms near SOC3 are associated with obesity and glucose homeostasis traits in Hipsanic Americans from the Insulin Resistance Atherosclerosis Family Study. Hum Genet. 2009 Mar; 125(2):153-62. doi: 10.1007/s00439-008-0608-3. Epub 2008 Dec 13. PMID: 19083014.
ODonnell CJ, Nabel EG. Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era. Circ Cardiovasc Genet. 2008 Oct;1(1):51-7. doi: 10.1161/CIRCGENETICS.108.813337.
McArdle PF, Rutherford S, Mitchell BD, Damcott CM, Wang Y, Ramachandran V, Ott S, Chang YP, Levy D, Steinle N. Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study. BMC Med Genet. 2008 Jul 14;9:67. doi: 10.1186/1471-2350-9-67. PMID: 18625075.
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Miljkovic I, Kuipers AL, Bunker CH, Patrick AL, Zmuda JM. Resequencing of FABP4 and its association with adiposity phenotypes in African Ancestry men. 30th Obesity Society Meeting, September 20-24, 2012, San Antonio, TX.
Zariwala M, Leigh M, Ostrowski L, Davis S, Berg J, Huang L, Yin W, Carson J, Hazucha M, Turner E, MacKenzie A, Bamshad M, Nickerson D, Shendure J, Knowles MR, and the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). Exome sequencing to identify genetic causes of primary ciliary dyskinesia with outer dynein arems defects. 12th International Congress of Human Genetics, October 11-15, 2011, Montreal, Canada.
Dumitrescu L, Crawford DC, Zimmer SM, Lynfield R, Morin C, Messonnier NE, Whitney CG, McNicholl J, Lingappa J. Genetic Susceptibility to Invasive Pneumococcal Disease (IPD). The American Society of Human Genetics, November 12, 2008, Philadelphia, PA.
Nguyen KD, Pihur V, Ganesh SK, Cooper R, Hunt SC, Coresh J, Kao WH, Morrison A, Boerwinkle E, Ehret GB, Chakravarti A. Effects of rare and common blood pressure gene variants on essential hypertension: results from the FBPP, CLUE and ARIC studies. Gordon Research Conference in Human Genetics and Genomics, July 17-22, 2011, Newport, RI.
Johnson AD, Hwang SJ, Peloso GM, Hsu YH, Wang YA, Thanassoulis G, Fox CS, Levy D, Freedman JE, Cupples A, ODonnell CJ. Comprehensive sequencing and profiling of 9p21.3 in the Framingham Heart Study reveals multiple associations with gene expression, subclinical and clinical cardiovascular disease. Circulation. 2010;122:A20084.
Nguyen KD, Ehret GB, Pihur V, Ganesh SK, Weder AB, Coresh J, Kao check, Chakravarti A. Effects of rare, putatively damaging variants in essential hypertension in the population-based CLUE and the family-based FBPP samples. The American Society of Human Genetics, November 2-6, 2010, Washington, DC.
Wernimont SM, Smith EM, Clark AG, Stover PJ, Wells MT, Litonjua AA, Weiss ST, Gaziano JM, Tucker KL, Baccarelli A, Schwartz J, Cassano PA. Folate network genetic variation, plasma homocysteine, and global genomic methylation content. FASEB J. April 2010. 24 (Meeting Abstract Supplement) 552.6.
Zariwala M, Leigh M, Carson J, Hazucha M, Minnix S, Burn K, Armstrong M, Lori A, Metjian H, Loges N, Olbrich H, Becker A, Schmidts M, Omran H, Rosenfeld M, Ferkol T, Dell S, Olivier K, Sagel S, Knowles M. Mutations in DNAH11 are exclusively seen in primary ciliary dyskinesia patients with normal ciliary ultrastructure: Deciphering the effect of splice mutations on the transcript. The American Society of Human Genetics, October 20-24, 2009, Honolulu, HI.
Zariwala M, Leigh M, Carson J, Hazucha M, Minnix S, Dell S, Ferkol T, Olivier K, Sagel S, Rosenfeld M, Burns K, Armstrong M, Lori A, Loges N, Olbrich H, Becker A, Schmidts M, Omran H, Knowles M, and the Genetic Diseases of Mucociliary Clearance Consortium. DNAH11 mutations are a common cause of Primary Ciliary Dyskinesia (PCD) in patients with normal ciliary dynein arms. American Thoracic Society, May 2009, San Diego, CA, USA. Abst# p.A1213.
Wernimont SM, Clark AG, Stover PJ, Wells MT, Litonjua AA, Weiss ST, Gaziano JM, Cassano PA. Variation in the methylenetetrahydrofolate dehydrogenase 1-like (MTHFD1L) gene and cardiovascular disease (CVD) risk. FASEB J. April 2009 23 (Meeting Abstract Supplement) 724.16.
Zariwala M, Leigh M, Carson J, Hazucha M, Minnix S, Dell S, Ferkol T, Olivier K, Sagel S, Rosenfeld M, Burns K, Armstrong M, Lori A, Metjian H, Loges N, Olbrich H, Becker A, Schmidts M, Omran H, Knowles M, and the Genetic Diseases of Mucociliary Clearance Consortium. Mutations in DNAH11 gene are a common cause of Primary Ciliary Dyskinesia (PCD) in patients with normal ciliary dynein arms. Gordon Research Conference, Cilia, Mucus & Mucociliary Interactions, February 2227, 2009, Lucca (Barga), Italy.
Bovill EG, Bezemer ID, Hasstedt SJ, Callas P, Hebbel RP, Rosendaal FR. IGSF4: A novel candidate gene for venous thrombosis. 50th American Society of Hematology Annual Meeting and Exposition, December 6-9, 2008, San Francisco, CA.
Wang Y, McArdle PF, Shi X, Damcott CM, Chang YC, Mitchell BD, Shuldiner AR, Steinle NI. Variation in ABCA12 is associated with blood pressure and partially accounted for the BP linkage on 2q in the Older Order Amish. The American Society of Human Genetics, November 11-15, 2008, Philadelphia, PA.
Miljkovic-Gacic I, Yerges LM, Gordon CL, Goodpaster BH, Kammerer CM, Kuller LH, Bunker CH, Patrick AL, Wheeler VW, Zmuda JM. A high-density screen of 25 lipoprotein genes identifies adiponectin as a candidate locus for skeletal muscle fat accumulation. The American Society of Human Genetics, November 11-15 2008, Philadelphia, PA.
Hershberger RE, Rampersaud E, Hamilton K, Khuri S, Li D, Cowan J, Morales A, Martin ER. Investigation of rare and common variants in resequencing data from 313 patients with dilated cardiomyopathy. The American Society of Human Genetics, November 11-15, 2008, Philadelphia, PA.
Miljkovic-Gacic I, Li H, Yerges LM, Kammerer CM, Wang XJ, CS Nestlerode, Kuller LH, Bunker CH, Patrick AL, Wheeler VW, RW Evans, Zmuda JM. Association of the fatty acid binding protein 4 (FABP4) gene with increased fat infiltration in skeletal muscle, hyperinsulinemia and hypertriglyceridemia in Afro-Caribbean families. 68th American Diabetes Association Scientific Sessions, June 6-10, 2008, San Francisco, CA.
Miljkovic-Gacic I, Wang XJ, Yerges LM, Kammerer CM, Kuller LH, Bunker CH, Patrick AL, Wheeler VW, RW Evans, Zmuda JM. Novel Association of Hepatic Nuclear Factor 4a (HNF4a) Variants with Triglycerides in a Population of African descent: The Tobago Family Health Study. 48th Annual Conference on Cardiovascular Disease Epidemiology and Prevention, March 2008, Colorado Springs, CO.
McArdle PF, Wang Y, Rutherford S, OConnell J, Pohl M, Damcott CM, Ott S, Reinhart L, Pollin TI, Chang YC, Mitchell BD, Shuldiner AR, Steinle N. Positional cloning of genes influencing blood pressure on chromosome 2q31-36 in the Older Order Amish. The American Society of Human Genetics, October 23-27 2007, San Diego, CA.
Miljkovic-Gacic I, Wang XJ, Kammerer CM, Kuller LH, Yerges LM, Bunker CH, Patrick AL, Wheeler VW, Evans RW, Zmuda JM. Genetic Variation in Four Candidate Loci and HDL-C: Tagging-SNP Analysis in Multigenerational Families of African Ancestry. Clinical Cardiovascular Genomics Meeting and Workshop, October 10-13, 2007, Cold Spring Harbor, ME.
McArdle PF, Rutherford S, Mitchell BD, Damcott CM, Wang Y, Ott S, Chang YC, Levy D, Shuldiner AR, Steinle N. Nicotinic acetylcholine receptor subunit variants on chromosome 2q are associated with systolic blood pressure in the Old Order Amish and the Framingham Heart Study. American Heart Association 61st Annual High Blood Pressure Research Conference, September 2007, Tucson, AZ.
Hershberger RE, Parks S, Kushner JD, Li D, Ludwigsen S, Jakobs PM, Nauman D, Burgess D, Partain J, Litt M. MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP mutations indentified in 313 patients with dilated cardiomyopathy. Circulation 2007;116:II_57.
Watanabe H, Darbar D, Jiramongkolchai K, Chopra S, Kucera G, Stubblefield T, Roden DM. Loss of Function Mutations of Sodium Channel Beta-1 and Beta-2 Subunits Associated with Atrial Fibrillation and ST-segment Elevation. Circulation. 2007;116:II_54.